【摘要】 目的筛查中国帕金森病患者是否存在PINK1基因T313M错义突变。方法应用聚合酶链反应(PCR)、DNA测序和限制性片段长度多态性(RFLP)等技术对1个帕金森病家系及120例散发性帕金森病患者进行PINK1基因T313M的突变分析。结果在一个家系中检测出PINK1基因T313M错义突变:3例患者为突变纯合子,患者母亲为杂合子,先症者1例临床表型正常的同胞也为突变纯合子(症状前患者);120例散发性帕金森病患者中未发现T313M突变。3例患者均表现有静止性震颤、肌强直;症状有波动性,睡眠后明显减轻;腱反射活跃;对美多巴反应良好。结论PINK1基因T313M错义突变不大可能是中国散发性帕金森病患者的突变热点。更多还原

【Abstract】 Objective To search for the T313M missense mutation of PINK1 gene in Chinese patients with Parkinson’s disease (PD). Methods One family and 120 sporadic patients with Parkinson’s disease were studied using polymerase chain reaction,DNA sequencing and restriction fragment length polymorphic (PCR-RFLP) techaniques. Results T313M missense mutation was found in one family. Three patients were homozygotes,and the mother was heterozygote for T313M mutation. One homozygous carrier of the proband did not present parkinsonian signs at the time of examination. No mutation was found in sporadic patients with PD. The clinical features in patients with T313M mutation included resting tremor,rigidity,diurnal fluctuations with sleep benefit,hyperreflexia,and good response to levodopa. Conclusion T313M missense mutation of PINK1 gene is rare in Chinese sporadic patients with PD.更多还原